A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6523733



Internal ID9453116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57108465..57109706hg38UCSC Ensembl
chr5:56404292..56405533hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666393
Supporting Variants
SamplesNA18873
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6523733
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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